Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.K301Splc
Back to variants list

STXBP2

NM_006949.4:p.K301Splc

Associated Papers

Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.

Cakir M et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2023

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.

Vogel GF et al.

Jci Insight, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."